ClinVar Miner

Submissions for variant NM_020631.5(PLEKHG5):c.307G>A (p.Val103Met) (rs141032388)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000313379 SCV000358775 uncertain significance Distal spinal muscular atrophy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000761631 SCV000646048 likely benign not provided 2019-03-03 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000761631 SCV000891801 uncertain significance not provided 2018-04-01 criteria provided, single submitter clinical testing

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